BCHE:Ensemblv90

butyrylcholinesterase
OMIM: 177400, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green BCHE in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Butyrylcholinesterase deficiency, MIM# 617936

Green BCHE in Additional findings_Paediatric


Level 2: Screening
Version 0.278

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Butyrylcholinesterase deficiency, MIM# 617936

Green BCHE in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.141

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Butyrylcholinesterase deficiency, MIM# 617936
Tags
  • pharmacogenomic

Green BCHE in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Butyrylcholinesterase deficiency, MIM# 617936
Tags
  • pharmacogenomic